Article
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
Journal of clinical immunology - 1 Apr 2011
Lee Pamela P W, Chan Koon-Wing, Chen Tong-Xin, Jiang Li-Ping, Wang Xiao-Chuan, Zeng Hua-Song, Chen Xiang-Yuan, Liew Woei-Kang, Chen Jing, Chu Kit-Man, Chan Lee-Lee, Shek Lynette, Lee Anselm C W, Yu Hsin-Hui, Li Qiang, Xu Chen-Guang, Sultan-Ugdoracion Geraldine, Latiff Zarina Abdul, Latiff Amir Hamzah Abdul, Jirapongsananuruk Orathai, Ho Marco H K, Lee Tsz-Leung, Yang Xi-Qiang, Lau Yu-Lung
Abstract excerpt
Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for IL2RG, JAK3, IL7R, RAG1, RAG2, DCLRE1C, LIG4, AK2, and ZAP70 mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient's gender, immune phenotype, and inheritance pattern....
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